Product Details

SNP ID

rs115348708

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:63820356 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAATGCTCCACCTCCTTCTTACCAA[C/G]AGGCAACTGTCGTATCCGGTGCTGC

Phenotype

MIM: 613369 MIM: 601681

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

DDX42 PubMed Links

Gene Details

Gene

DDX42

Gene Name

DEAD-box helicase 42

There are no transcripts associated with this gene.

Gene

FTSJ3

Gene Name

FtsJ homolog 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017647.3	2801	Missense Mutation	CTT,GTT	L719V	NP_060117.3

Gene

PSMC5

Gene Name

proteasome 26S subunit, ATPase 5

There are no transcripts associated with this gene.

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